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Combined immunophenotyping and DNA in situ hybridization to study lineage
involvement in patients with myelodysplastic syndromes
RE Kibbelaar, H van Kamp, EJ Dreef, G de Groot-Swings, JC Kluin-Nelemans, GC Beverstock, WE Fibbe and PM Kluin
Department of Pathology, University of Leiden, The Netherlands.
Clonality of myeloid and lymphoid cell fractions obtained from peripheral
blood (PB) or bone marrow (BM) of five patients with a myelodysplastic
syndrome (MDS), was studied by combined immunophenotypic analysis and DNA
in situ hybridization. This novel technique enables quantitative and direct
analysis of cytogenetic alterations in nondividing cells of distinct cell
lineages. Four patients with a trisomy 8 and one patient with a
translocation (1;7) were studied. For cell lineage determination,
antibodies specific for progenitor cells (CD34), myeloid cells (CD15),
monocytes (63D3), T cells (CD3), and B cells (CD19,20,22) were used. In one
patient with a trisomy 8, BM cells were available and the erythroid lineage
could be studied. For detection of cytogenetic aberrations, we used
chromosome- specific repetitive DNA probes. In three patients, all
nonlymphoid cells carried the cytogenetic abnormality; in two patients,
mosaicism within these lineages was suggested by the relative low numbers
(35% to 55%) of aberrant cells. None of the T or B cells of the five
patients carried the chromosomal aberrations. We conclude that combined
immunophenotyping and in situ hybridization is a feasible technique to
study lineage involvement. Our data suggest that the chromosomal
aberrations studied in MDS are restricted to the myeloid lineages.
Volume 79,
Issue 7,
pp. 1823-1828,
04/01/1992
Copyright © 1992 by The American Society of Hematology
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